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Context Patients with mutations in thyroid hormone transporter MCT8 have developmental delay and chronic thyrotoxicosis associated with being underweight and having cardiovascular dysfunction. Objective Our previous trial showed improvement of key clinical and biochemical features during 1-year treatment with the T3 analogue Triac, but long-term follow-up data are needed. Methods In this real-life retrospective cohort study, we investigated the efficacy of Triac in MCT8-deficient patients in 33 sites. The primary endpoint was change in serum T3 concentrations from baseline to last available measurement. Secondary endpoints were changes in other thyroid parameters, anthropometric parameters, heart rate, and biochemical markers of thyroid hormone action. Results From October 15, 2014 to January 1, 2021, 67 patients (median baseline age 4.6 years; range, 0.5-66) were treated up to 6 years (median 2.2 years; range, 0.2-6.2). Mean T3 concentrations decreased from 4.58 (SD 1.11) to 1.66 (0.69) nmol/L (mean decrease 2.92 nmol/L; 95% CI, 2.61-3.23; P < 0.0001; target 1.4-2.5 nmol/L). Body-weight-for-age exceeded that of untreated historical controls (mean difference 0.72 SD; 95% CI, 0.36-1.09; P = 0.0002). Heart-rate-for-age decreased (mean difference 0.64 SD; 95% CI, 0.29-0.98; P = 0.0005). SHBG concentrations decreased from 245 (99) to 209 (92) nmol/L (mean decrease 36 nmol/L; 95% CI, 16-57; P = 0.0008). Mean creatinine concentrations increased from 32 (11) to 39 (13) µmol/L (mean increase 7 µmol/L; 95% CI, 6-9; P < 0.0001). Mean creatine kinase concentrations did not significantly change. No drug-related severe adverse events were reported. Conclusions Key features were sustainably alleviated in patients with MCT8 deficiency across all ages, highlighting the real-life potential of Triac for MCT8 deficiency.

BACKGROUND AND AIMS Predicting short-term relapses and long-term prognosis is of outmost importance in paediatric inflammatory bowel disease. Our aim was to investigate the short-term disease outcome and medication during the first year in a paediatric incident cohort from Hungary. In addition, association laboratory markers and disease activity indices with short-term disease outcome and medication were analysed. METHODS From January 1, 2008 to December 31, 2010 demographic data and clinical characteristics of newly diagnosed paediatric inflammatory bowel disease patients younger than 18 years of age were prospectively recorded. RESULTS A total of 420 patients were identified [Crohn's disease: 266; ulcerative colitis 124]. Initially, 48% (124/256) of Crohn's disease patients had moderate to severe disease (PCDAI>31), and this rate decreased to 2.1% at one-year follow-up. Proportion of ulcerative colitis patients with moderate to severe disease (PUCAI>35) at diagnosis declined from 57.5% (69/120) to 6.8% at one-year follow-up. Terminal ileal involvement correlated with higher initial CRP (p = 0.021) and initial PCDAI (p = 0.026). In ulcerative colitis, elevated CRP (p = 0.002) was associated with disease extension. CRP and PCDAI at diagnosis were associated with the need for immunomodulators at one year in children with Crohn's disease. Initial CRP was also associated with the need for immunomodulators in patients with ulcerative colitis at one-year follow-up. CONCLUSIONS At diagnosis half of the patients with inflammatory bowel disease had moderate to severe disease and this rate decreased to less than 10% after one year. Initial CRP and PCDAI were related to the need for aggressive therapy in Crohn's disease.